PAH gene.p.Arg408Trp [Presence] in Blood or Tissue by Molecular genetics method   70245-6

LOINC Code


LOINC code70245-6
namePAH gene.p.Arg408Trp [Presence] in Blood or Tissue by Molecular genetics method
statusACTIVE

Fully-Specified Name

componentPAH gene.p.Arg408Trp
propertyPrThr  =  Present or threshold:  The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold.
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleOrd  =  Ordinal:  Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short namePAH p.R408W Bld/T Ql

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.68
last change typeMIN  - change to field other than name
change reasonProperty has been changed from Arb (arbitrary) to Pr (presence) to reflect our current model for Ordinal terms where the results are based on the presence or absence of a mutation or variant. Scale has been changed from Nom to Ord since results (e.g. present/absent or wildtype, heterozgous, homozygous) are ordinal. Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.

Related Names

12q23.2
ARG408TRP
Blood
Genetics
Heredity
Heritable
Inherited
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Ordinal
P prime
PAH p.R408W
PAH, ARG408TRP
PCR
PH
phenylalanine hydroxylase
Phenylalanine hydroxylase gene
PHENYLKETONURIA
PKU
PKU1
Point in time
PR
QL
Qual
Qualitative
Random
rs5030858
Screen
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.